Varaico: Literature-Extracted Genetic Variants

Gene:TBL1XR1
Variant:p.D369E
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TBL1XR1

NM_024665.7:p.D369E

Associated Papers

Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.

Ansari M et al.

Human Mutation, 2025

TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum.

Arroyo Carrera I et al.

Clinical Genetics, 2021

Genotype and Phenotype Correlations for TBL1XR1 in Neurodevelopmental Disorders.

Quan Y et al.

Journal of Molecular Neuroscience : Mn, 2020

The Molecular Basis of MeCP2 Function in the Brain.

Tillotson R et al.

Journal of Molecular Biology, 2020

Novel GPR34 and CCR6 mutation and distinct genetic profiles in MALT lymphomas of different sites.

Moody S et al.

Haematologica, 2018

29674500 (PubMed )
Supplement: 2018.191601.MOODY_SUPPL.pdf

Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders.

Kruusvee V et al.

Proceedings of the National Academy of Sciences of the United States of America, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."